Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders
0.210 Biomarker group BEFREE To determine whether MBNL1 nuclear sequestration is a feature of DM pathologies, we have examined the in vivo distribution of MBNL1 in muscle sections from genetically confirmed DM1 (n=7) and DM2 (n=9) patients, patients with other myotonic disorders (n=11) and from patients with disorders caused by repeat expansions, but not DM1/DM2 (n=3). 16920640 2007
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders
0.210 Biomarker group MGD